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Volumn 16, Issue 3, 2005, Pages 361-368

Apert and Crouzon syndromes: Clinical findings, genes and extracellular matrix

Author keywords

Apert syndrome; Craniosynostosis; Crouzon syndrome; Extracellular matrix; Gene

Indexed keywords

CYTOKINE; FIBROBLAST GROWTH FACTOR; FIBROBLAST GROWTH FACTOR RECEPTOR 2; GLYCOSAMINOGLYCAN; PROTEIN;

EID: 20744456449     PISSN: 10492275     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.SCS.0000157078.53871.11     Document Type: Article
Times cited : (69)

References (52)
  • 1
    • 0000003824 scopus 로고
    • De l'acrocephalosyndactylie
    • Apert M. De l'acrocephalosyndactylie. Bull Mem Soc Med Hop Paris 1906;23:1310-1330
    • (1906) Bull Mem Soc Med Hop Paris , vol.23 , pp. 1310-1330
    • Apert, M.1
  • 2
    • 0029876887 scopus 로고    scopus 로고
    • Apert syndrome: Cephalometric evaluation and considerations on pathogenesis
    • Avantaggiato A, Carinci F, Curioni C. Apert syndrome: cephalometric evaluation and considerations on pathogenesis. J Craniofac Surg 1996;7:23-31
    • (1996) J Craniofac Surg , vol.7 , pp. 23-31
    • Avantaggiato, A.1    Carinci, F.2    Curioni, C.3
  • 3
    • 72849168864 scopus 로고
    • Apert syndrome (a type of acrocephalosyndactyly): Observations on a British series of thirty-nine cases
    • Blank C. Apert syndrome (a type of acrocephalosyndactyly): observations on a British series of thirty-nine cases. Ann Hum Genet 1960;24:151-164
    • (1960) Ann Hum Genet , vol.24 , pp. 151-164
    • Blank, C.1
  • 4
    • 0002699868 scopus 로고
    • Syndromes with craniostenosinostopsys: General aspects and well-known syndromes
    • Gorlin R, Cohen M, Levin L, eds. Oxford: Oxford University Press
    • Gorlin R, Cohen M, Levin L. Syndromes with craniostenosinostopsys: general aspects and well-known syndromes. In: Gorlin R, Cohen M, Levin L, eds. Syndromes of the head and neck. Oxford: Oxford University Press, 1990:520-526
    • (1990) Syndromes of the Head and Neck , pp. 520-526
    • Gorlin, R.1    Cohen, M.2    Levin, L.3
  • 5
    • 0023845135 scopus 로고
    • Intellectual development in Apert syndrome: A long term follow up of 29 patients
    • Patton M, Goodship J, Hayward R, Lansdown R. Intellectual development in Apert syndrome: a long term follow up of 29 patients. J Med Genet 1988;25:164-167
    • (1988) J Med Genet , vol.25 , pp. 164-167
    • Patton, M.1    Goodship, J.2    Hayward, R.3    Lansdown, R.4
  • 6
    • 0025159354 scopus 로고
    • The central nervous system in the Apert syndrome
    • Cohen M, Kreiborg S. The central nervous system in the Apert syndrome. Am J Med Genet 1990;35:36-45
    • (1990) Am J Med Genet , vol.35 , pp. 36-45
    • Cohen, M.1    Kreiborg, S.2
  • 7
    • 0029949408 scopus 로고    scopus 로고
    • Prognosis for mental function in Apert syndrome
    • Reiner D, Arnaud E, Cinalli G, et al. Prognosis for mental function in Apert syndrome. J Neurosurg 1996;85:66-72
    • (1996) J Neurosurg , vol.85 , pp. 66-72
    • Reiner, D.1    Arnaud, E.2    Cinalli, G.3
  • 8
    • 0026622964 scopus 로고
    • Cervical spine in the Apert syndrome
    • Kreiborg A, Barr M, Cohen M. Cervical spine in the Apert syndrome. Am J Med Genet 1992;43:704-708
    • (1992) Am J Med Genet , vol.43 , pp. 704-708
    • Kreiborg, A.1    Barr, M.2    Cohen, M.3
  • 9
    • 0029655164 scopus 로고
    • Cutaneous manifestations of Apert syndrome
    • Cohen M, Kreiborg S. Cutaneous manifestations of Apert syndrome. Am J Med Genet 1995;58:94-96
    • (1995) Am J Med Genet , vol.58 , pp. 94-96
    • Cohen, M.1    Kreiborg, S.2
  • 10
    • 8744286906 scopus 로고
    • Dyskephalie (dysostosis craniofacialis, maladie de Crouzon 1912) und eine neuartige Kombination dieser Krankheit mit Syndaktylie der 4 Extremitaeten (Dyskephalodaktylie)
    • Vogt A. Dyskephalie (dysostosis craniofacialis, maladie De Crouzon 1912) und eine neuartige Kombination dieser Krankheit mit Syndaktylie der 4 Extremitaeten (Dyskephalodaktylie). Klin Mbl Augenheilk 1933;90:441-454
    • (1933) Klin Mbl Augenheilk , vol.90 , pp. 441-454
    • Vogt, A.1
  • 11
    • 0002696740 scopus 로고
    • Das Gehoerorgan bei den angeborenen Kopfmissbildungen
    • Nager F, de Reynier J. Das Gehoerorgan bei den angeborenen Kopfmissbildungen. Pract Otorhinolaryng 1948;10(Suppl 2): 1-128
    • (1948) Pract Otorhinolaryng , vol.10 , Issue.SUPPL. 2 , pp. 1-128
    • Nager, F.1    De Reynier, J.2
  • 12
    • 0028798546 scopus 로고
    • Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome
    • Wilkie A, Slaney S, Oldridge M, et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genet 1995;9:165-172
    • (1995) Nature Genet , vol.9 , pp. 165-172
    • Wilkie, A.1    Slaney, S.2    Oldridge, M.3
  • 13
    • 0027203991 scopus 로고
    • Control of BEK and K-SAM splice sites in alternative splicing of the fibroblast growth factor receptor 2 pre-mRNA
    • Gilbert E, Del Gatto F, Champion-Arnaud P, et al. Control of BEK and K-SAM splice sites in alternative splicing of the fibroblast growth factor receptor 2 pre-mRNA. Molec Cell Biol 1993; 13:5461-5468
    • (1993) Molec Cell Biol , vol.13 , pp. 5461-5468
    • Gilbert, E.1    Del Gatto, F.2    Champion-Arnaud, P.3
  • 14
    • 0029883637 scopus 로고    scopus 로고
    • Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome
    • Slaney S, Oldridge M, Hurst J, et al. Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am J Hum Genet 1996;58:923-932
    • (1996) Am J Hum Genet , vol.58 , pp. 923-932
    • Slaney, S.1    Oldridge, M.2    Hurst, J.3
  • 15
    • 8044233698 scopus 로고    scopus 로고
    • Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2
    • Oldridge M, Lunt P, Zackai E, et al. Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2. Hum Molec Genet 1997;6:137-143
    • (1997) Hum Molec Genet , vol.6 , pp. 137-143
    • Oldridge, M.1    Lunt, P.2    Zackai, E.3
  • 16
    • 0029983638 scopus 로고    scopus 로고
    • Exclusive paternal origin of new mutations in Apert syndrome
    • Moloney D, Slaney S, Oldridge M, et al. Exclusive paternal origin of new mutations in Apert syndrome. Nature Genet 1996; 13:48-53
    • (1996) Nature Genet , vol.13 , pp. 48-53
    • Moloney, D.1    Slaney, S.2    Oldridge, M.3
  • 17
    • 0030045294 scopus 로고    scopus 로고
    • Effect of fibroblast growth factor-2 on Sertoli cells and gonocytes in co-culture during the perinatal period
    • Van Dissel-Emiliani F, De Boer-Brouwer M, De Rooij D. Effect of fibroblast growth factor-2 on Sertoli cells and gonocytes in co-culture during the perinatal period. Endocrinology 1996;137: 647-654
    • (1996) Endocrinology , vol.137 , pp. 647-654
    • Van Dissel-Emiliani, F.1    De Boer-Brouwer, M.2    De Rooij, D.3
  • 18
    • 0033073850 scopus 로고    scopus 로고
    • De novo Alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome
    • Oldridge M, Zackai E, McDonald-McGinn D, et al. De novo Alu-element insertions in FGFR2 identify a distinct pathological basis for Apert syndrome. Am J Hum Genet 1999;64: 446-461
    • (1999) Am J Hum Genet , vol.64 , pp. 446-461
    • Oldridge, M.1    Zackai, E.2    McDonald-McGinn, D.3
  • 19
    • 0032966331 scopus 로고    scopus 로고
    • Clinical variability in patients with Apert syndrome
    • Lajeunie E, Cameron R, El Ghouzzi V, et al. Clinical variability in patients with Apert syndrome. J Neurosurg 1999;90:443-447
    • (1999) J Neurosurg , vol.90 , pp. 443-447
    • Lajeunie, E.1    Cameron, R.2    El Ghouzzi, V.3
  • 20
    • 0033998110 scopus 로고    scopus 로고
    • Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery
    • von Gernet S, Golla A, Ehrenfels Y, et al. Genotype-phenotype analysis in Apert syndrome suggests opposite effects of the two recurrent mutations on syndactyly and outcome of craniofacial surgery. Clin Genet 2000;57:137-139
    • (2000) Clin Genet , vol.57 , pp. 137-139
    • Von Gernet, S.1    Golla, A.2    Ehrenfels, Y.3
  • 21
    • 0032578269 scopus 로고    scopus 로고
    • Epidermal mosaicism producing localised acne: Somatic mutation in FGFR2
    • Munro C, Wilkie A. Epidermal mosaicism producing localised acne: somatic mutation in FGFR2. Lancet 1998;352:704-705
    • (1998) Lancet , vol.352 , pp. 704-705
    • Munro, C.1    Wilkie, A.2
  • 22
    • 0017181664 scopus 로고
    • The lines of Blaschko: A review and reconsideration
    • Jackson R. The lines of Blaschko: a review and reconsideration. Br J Derm 1976;95:349-360
    • (1976) Br J Derm , vol.95 , pp. 349-360
    • Jackson, R.1
  • 24
    • 0031683688 scopus 로고    scopus 로고
    • Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand
    • Anderson J, Burns H, Enriquez-Harris P, et al. Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand. Hum Molec Genet 1998;7: 1475-1483
    • (1998) Hum Molec Genet , vol.7 , pp. 1475-1483
    • Anderson, J.1    Burns, H.2    Enriquez-Harris, P.3
  • 25
    • 0034687699 scopus 로고    scopus 로고
    • Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome
    • Yu K, Herr A, Waksman G, Ornitz D. Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome. Proc Nat Acad Sci 2000;97:14536-14541
    • (2000) Proc Nat Acad Sci , vol.97 , pp. 14536-14541
    • Yu, K.1    Herr, A.2    Waksman, G.3    Ornitz, D.4
  • 26
    • 0031049303 scopus 로고    scopus 로고
    • Apert syndrome: Differential in vitro production of matrix macromolecules and its regulation by interleukins
    • Bodo M, Carinci F, Baroni T, et al. Apert syndrome: differential in vitro production of matrix macromolecules and its regulation by interleukins. Eur J Clin Invest 1997;27:36-42
    • (1997) Eur J Clin Invest , vol.27 , pp. 36-42
    • Bodo, M.1    Carinci, F.2    Baroni, T.3
  • 27
    • 0031967405 scopus 로고    scopus 로고
    • Interleukin pattern of Apert fibroblasts in vitro
    • Bodo M, Carinci F, Baroni T, et al. Interleukin pattern of Apert fibroblasts in vitro. Eur J Cell Biol 1998;75:383-388
    • (1998) Eur J Cell Biol , vol.75 , pp. 383-388
    • Bodo, M.1    Carinci, F.2    Baroni, T.3
  • 28
    • 0032846293 scopus 로고    scopus 로고
    • Differential in vitro phenotype pattern, transforming growth factor-beta(1) activity and mRNA expression of transforming growth factor-beta(1) in Apert osteoblasts
    • Locci P, Baroni T, Pezzetti F, et al. Differential in vitro phenotype pattern, transforming growth factor-beta(1) activity and mRNA expression of transforming growth factor-beta(1) in Apert osteoblasts. Cell Tissue Res 1999;297:475-483
    • (1999) Cell Tissue Res , vol.297 , pp. 475-483
    • Locci, P.1    Baroni, T.2    Pezzetti, F.3
  • 29
    • 0032521181 scopus 로고    scopus 로고
    • Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome
    • Lomri A, Lemonnier J, Hott M, et al. Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome. J Clin Invest 1998;101:1310-1317
    • (1998) J Clin Invest , vol.101 , pp. 1310-1317
    • Lomri, A.1    Lemonnier, J.2    Hott, M.3
  • 30
    • 0034718796 scopus 로고    scopus 로고
    • Crystal structure of fibroblast growth factor receptor ectodomain bound to ligand and heparin
    • Pellegrini L, Burke D, von Delft F, et al. Crystal structure of fibroblast growth factor receptor ectodomain bound to ligand and heparin. Nature 2000;407:1029-1034
    • (2000) Nature , vol.407 , pp. 1029-1034
    • Pellegrini, L.1    Burke, D.2    Von Delft, F.3
  • 31
    • 0001326304 scopus 로고
    • Dysostose cranio-faciale hereditaire
    • Crouzon O. Dysostose cranio-faciale hereditaire. Bull Mem Soc Med Hop Paris 1912;33:545-555
    • (1912) Bull Mem Soc Med Hop Paris , vol.33 , pp. 545-555
    • Crouzon, O.1
  • 32
    • 0028341679 scopus 로고
    • Crouzon syndrome: Cephalometric analysis and evaluation of pathogenesis
    • Carinci F, Avantaggiato A, Curioni C. Crouzon syndrome: cephalometric analysis and evaluation of pathogenesis. Cleft Palate Craniofac J 1994;31:201-209
    • (1994) Cleft Palate Craniofac J , vol.31 , pp. 201-209
    • Carinci, F.1    Avantaggiato, A.2    Curioni, C.3
  • 34
    • 20744449754 scopus 로고
    • Craniofacial dysostosis: Crouzon disease
    • Dodge H, Wood M, Kennedy R. Craniofacial dysostosis: Crouzon disease. Pediatrics 1959;23:98-106
    • (1959) Pediatrics , vol.23 , pp. 98-106
    • Dodge, H.1    Wood, M.2    Kennedy, R.3
  • 35
    • 20744442971 scopus 로고
    • Cranio-facial dysostosis in a Dorset family
    • Vulliamy D, Normandale P. Cranio-facial dysostosis in a Dorset family. Arch Dis Child 1966;41:375-382
    • (1966) Arch Dis Child , vol.41 , pp. 375-382
    • Vulliamy, D.1    Normandale, P.2
  • 36
    • 0015596140 scopus 로고
    • An autosomal recessive form of cranio-facial dysostosis (the Crouzon syndrome)
    • Juberg R, Chambers S. An autosomal recessive form of cranio-facial dysostosis (the Crouzon syndrome). J Med Genet 1973;10: 89-93
    • (1973) J Med Genet , vol.10 , pp. 89-93
    • Juberg, R.1    Chambers, S.2
  • 37
    • 20744458820 scopus 로고
    • Dysostose cranienne avec calotte cerebriforme (pseudo-Crouzon)
    • Franceschetti A. Dysostose cranienne avec calotte cerebriforme (pseudo-Crouzon). Confin Neurol 1953;13:161-166
    • (1953) Confin Neurol , vol.13 , pp. 161-166
    • Franceschetti, A.1
  • 38
    • 0027981524 scopus 로고
    • Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome
    • Reardon W, Winter R, Rutland P, et al. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nature Genet 1994;8:98-103
    • (1994) Nature Genet , vol.8 , pp. 98-103
    • Reardon, W.1    Winter, R.2    Rutland, P.3
  • 39
    • 0028356625 scopus 로고
    • A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10
    • Preston R, Post J, Keats B, et al. A gene for Crouzon craniofacial dysostosis maps to the long arm of chromosome 10. Nature Genet 1994;7:149-153
    • (1994) Nature Genet , vol.7 , pp. 149-153
    • Preston, R.1    Post, J.2    Keats, B.3
  • 40
    • 0028113931 scopus 로고
    • Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2
    • Jabs E, Li X, Scott A, et al. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nature Genet 1994;8:275-279
    • (1994) Nature Genet , vol.8 , pp. 275-279
    • Jabs, E.1    Li, X.2    Scott, A.3
  • 41
    • 0029671080 scopus 로고    scopus 로고
    • FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: Evidence for missense changes, insertions, and a deletion due to alternative RNA splicing
    • Meyers G, Day D, Goldberg R, et al. FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. Am J Hum Genet 1996;58: 491-498
    • (1996) Am J Hum Genet , vol.58 , pp. 491-498
    • Meyers, G.1    Day, D.2    Goldberg, R.3
  • 42
    • 0029242747 scopus 로고
    • FGFR2 mutations in Pfeiffer syndrome
    • Lajeunie E, Ma H, Bonaventure J, et al. FGFR2 mutations in Pfeiffer syndrome (Letter). Nature Genet 1995;9:108
    • (1995) Nature Genet , vol.9 , pp. 108
    • Lajeunie, E.1    Ma, H.2    Bonaventure, J.3
  • 43
    • 0029109137 scopus 로고
    • Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes
    • Rutland P, Pulleyn L, Reardon W, et al. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nature Genet 1995;9:173-176
    • (1995) Nature Genet , vol.9 , pp. 173-176
    • Rutland, P.1    Pulleyn, L.2    Reardon, W.3
  • 44
    • 0029957404 scopus 로고    scopus 로고
    • FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation
    • Steinberger D, Reinhartz T, Unsold R, Muller U. FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation. Am J Med Genet 1996;66:81-86
    • (1996) Am J Med Genet , vol.66 , pp. 81-86
    • Steinberger, D.1    Reinhartz, T.2    Unsold, R.3    Muller, U.4
  • 45
    • 0029243620 scopus 로고
    • Craniofacial syndromes: No such thing as a single gene disease
    • Mulvihill J. Craniofacial syndromes: no such thing as a single gene disease. Nature Genet 1995;9:101-103
    • (1995) Nature Genet , vol.9 , pp. 101-103
    • Mulvihill, J.1
  • 46
    • 0033941757 scopus 로고    scopus 로고
    • Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome
    • Glaser R, Jiang W, Boyadjiev S, et al. Paternal origin of FGFR2 mutations in sporadic cases of Crouzon syndrome and Pfeiffer syndrome. Am J Hum Genet 2000;66:768-777
    • (2000) Am J Hum Genet , vol.66 , pp. 768-777
    • Glaser, R.1    Jiang, W.2    Boyadjiev, S.3
  • 47
    • 0036821229 scopus 로고    scopus 로고
    • Expression profiles of craniosynostosis-derived fibroblasts
    • Carinci F, Bodo M, Tosi L, et al. Expression profiles of craniosynostosis-derived fibroblasts. Mol Med 2002;8:638-644
    • (2002) Mol Med , vol.8 , pp. 638-644
    • Carinci, F.1    Bodo, M.2    Tosi, L.3
  • 48
    • 0030268114 scopus 로고    scopus 로고
    • Effects of interleukins on Crouzon fibroblast phenotype in vitro. Release of cytokines and IL-6 mRNA expression
    • Bodo M, Carinci F, Baroni T, et al. Effects of interleukins on Crouzon fibroblast phenotype in vitro. Release of cytokines and IL-6 mRNA expression. Cytokine 1996;8:772-783
    • (1996) Cytokine , vol.8 , pp. 772-783
    • Bodo, M.1    Carinci, F.2    Baroni, T.3
  • 49
    • 0033036790 scopus 로고    scopus 로고
    • A regulatory role of fibroblast growth factor in the expression of decorin, biglycan, betaglycan and syndecan in osteoblasts from patients with Crouzon syndrome
    • Bodo M, Baroni T, Carinci F, et al. A regulatory role of fibroblast growth factor in the expression of decorin, biglycan, betaglycan and syndecan in osteoblasts from patients with Crouzon syndrome. Eur J Cell Biol 1999;78:323-330
    • (1999) Eur J Cell Biol , vol.78 , pp. 323-330
    • Bodo, M.1    Baroni, T.2    Carinci, F.3
  • 50
    • 0033868148 scopus 로고    scopus 로고
    • Interleukin secretion, proteoglycan and procollagen alpha(1) (I) gene expression in Crouzon fibroblasts treated with basic fibroblast growth factor
    • Bodo M, Baroni T, Carinci F, et al. Interleukin secretion, proteoglycan and procollagen alpha(1) (I) gene expression in Crouzon fibroblasts treated with basic fibroblast growth factor. Cytokine 2000;12:1280-1283
    • (2000) Cytokine , vol.12 , pp. 1280-1283
    • Bodo, M.1    Baroni, T.2    Carinci, F.3
  • 51
    • 0036382754 scopus 로고    scopus 로고
    • Crouzon syndrome: Differential in vitro secretion of bFGF, TGFbeta isoforms and extracellular matrix macromolecules in patients with FGFR2 gene mutation
    • Baroni T, Lilli C, Marinucci L, et al. Crouzon syndrome: differential in vitro secretion of bFGF, TGFbeta isoforms and extracellular matrix macromolecules in patients with FGFR2 gene mutation. Cytokine 2002;19:94-98
    • (2002) Cytokine , vol.19 , pp. 94-98
    • Baroni, T.1    Lilli, C.2    Marinucci, L.3
  • 52
    • 18544371817 scopus 로고    scopus 로고
    • Basic fibroblast growth factor: Effects on matrix remodeling, receptor expression, and transduction pathway in human periosteal fibroblasts with FGFR2 gene mutation
    • Bodo M, Lilli C, Aisa MC, et al. Basic fibroblast growth factor: effects on matrix remodeling, receptor expression, and transduction pathway in human periosteal fibroblasts with FGFR2 gene mutation. J Interferon Cytokine Res 2002;22:621-630
    • (2002) J Interferon Cytokine Res , vol.22 , pp. 621-630
    • Bodo, M.1    Lilli, C.2    Aisa, M.C.3


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